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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
No signs/symptoms info
Huntington disease
Leigh syndrome with nephrotic syndrome

HTT BCS1L
COQ2
DLD
PDSS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.63)
DLD



Citations in the biomedical literature:


Huntington disease
HTT
Leigh syndrome with nephrotic syndrome
BCS1L COQ2 DLD PDSS2



Huntington disease
Leigh syndrome with nephrotic syndrome

Synonym(s):
- Huntington chorea

Synonym(s):
- Infantile subacute necrotizing encephalopathy with nephrotic syndrome
- Leigh disease with nephrotic syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D006816
External references:
2 OMIM references -
No MeSH references

Huntington disease

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal dominant inheritance
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Movement disorder
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Leigh syndrome with nephrotic syndrome

(no data available)